Prediction of fetal hemoglobin in sickle cell anemia using an ensemble of genetic risk prediction models.

ABSTRACT:

Background

Fetal hemoglobin (HbF) is the major modifier of the clinical course of sickle cell anemia. Its levels are highly heritable, and its interpersonal variability is modulated in part by 3 quantitative trait loci that affect HbF gene expression. Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) in these quantitative trait loci that are highly associated with HbF but explain only 10% to 12% of the variance of HbF. Combining SNPs into a genetic risk score can help to explain a larger amount of the variability of HbF level, but the challenge of this approach is to select the optimal number of SNPs to be included in the genetic risk score.

Methods and results

We developed a collection of 14 models with genetic risk score composed of dif

SUBMITTER: Milton JN 

PROVIDER: S-EPMC3994553 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature